Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24979 | 75160;75161;75162 | chr2:178571197;178571196;178571195 | chr2:179435924;179435923;179435922 |
| N2AB | 23338 | 70237;70238;70239 | chr2:178571197;178571196;178571195 | chr2:179435924;179435923;179435922 |
| N2A | 22411 | 67456;67457;67458 | chr2:178571197;178571196;178571195 | chr2:179435924;179435923;179435922 |
| N2B | 15914 | 47965;47966;47967 | chr2:178571197;178571196;178571195 | chr2:179435924;179435923;179435922 |
| Novex-1 | 16039 | 48340;48341;48342 | chr2:178571197;178571196;178571195 | chr2:179435924;179435923;179435922 |
| Novex-2 | 16106 | 48541;48542;48543 | chr2:178571197;178571196;178571195 | chr2:179435924;179435923;179435922 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/H | rs1364199300  |
-2.249 | 1.0 | D | 0.835 | 0.904 | 0.834973207148 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/H | rs1364199300 |
-2.249 | 1.0 | D | 0.835 | 0.904 | 0.834973207148 | gnomAD-4.0.0 | 2.05292E-06 | None | None | None | None | N | None | 0 | 6.70991E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/N | rs1364199300 |
-3.086 | 1.0 | D | 0.855 | 0.89 | 0.949801987783 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| Y/N | rs1364199300 |
-3.086 | 1.0 | D | 0.855 | 0.89 | 0.949801987783 | gnomAD-4.0.0 | 6.84308E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15945E-05 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9887 | likely_pathogenic | 0.9851 | pathogenic | -3.231 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| Y/C | 0.8629 | likely_pathogenic | 0.8493 | pathogenic | -1.738 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.688490926 | None | None | N |
| Y/D | 0.9917 | likely_pathogenic | 0.9897 | pathogenic | -3.703 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.688490926 | None | None | N |
| Y/E | 0.9971 | likely_pathogenic | 0.9963 | pathogenic | -3.505 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| Y/F | 0.3405 | ambiguous | 0.3226 | benign | -1.221 | Destabilizing | 0.999 | D | 0.755 | deleterious | D | 0.635598464 | None | None | N |
| Y/G | 0.9774 | likely_pathogenic | 0.9726 | pathogenic | -3.623 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| Y/H | 0.9665 | likely_pathogenic | 0.9609 | pathogenic | -2.201 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.662952815 | None | None | N |
| Y/I | 0.945 | likely_pathogenic | 0.9402 | pathogenic | -1.915 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| Y/K | 0.9978 | likely_pathogenic | 0.9969 | pathogenic | -2.341 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| Y/L | 0.9272 | likely_pathogenic | 0.9171 | pathogenic | -1.915 | Destabilizing | 0.999 | D | 0.81 | deleterious | None | None | None | None | N |
| Y/M | 0.9607 | likely_pathogenic | 0.9519 | pathogenic | -1.556 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| Y/N | 0.9357 | likely_pathogenic | 0.9282 | pathogenic | -3.126 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.688289122 | None | None | N |
| Y/P | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -2.371 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| Y/Q | 0.9964 | likely_pathogenic | 0.9954 | pathogenic | -2.907 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| Y/R | 0.994 | likely_pathogenic | 0.9923 | pathogenic | -2.034 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| Y/S | 0.9739 | likely_pathogenic | 0.9696 | pathogenic | -3.417 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.672471565 | None | None | N |
| Y/T | 0.9844 | likely_pathogenic | 0.9798 | pathogenic | -3.11 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| Y/V | 0.8858 | likely_pathogenic | 0.8753 | pathogenic | -2.371 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| Y/W | 0.8248 | likely_pathogenic | 0.8306 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.